caa a22 4500 378938258 CHVBK 20180305123646.0 cr unu---uuuuu 161128e20041201xx s 000 0 mul 10.1515/LabMed.2004.069 doi (NATIONALLICENCE)gruyter-10.1515/LabMed.2004.069 Newborn screening for inborn errors of metabolism with tandem mass spectrometry in Bavaria, Germany. Neugeborenen-Screening auf angeborene Stoffwechselerkrankungen mit Tandem-Massenspektrometrie in Bayern (Deutschland) [Elektronische Daten] [Adelbert A. Roscher, Bernhard Olgemöller] Abstract Tandem mass spectrometry (MS/MS) is rapidly being adopted by newborn screening programs to screen dried blood spots for >20 markers of disease in a single assay. We report here key developments in the introduction and validation of MS-MS screening during a >4 year of experience in Bavaria, Germany. We identified confirmed cases of treatable inborn errors of metabolism at a cumulative rate of 1:2700 (out of 525,000 newborns). This rate is considerably higher than previously recognized by combined data from traditional newborn screening and high-risk clinical screening of symptomatic patients in the same area. The application of MS-MS also made a major impact on the early detection of disease classes such as the fatty acid oxidation defects, that are associated with high mortality if left unrecognized. The overall highly favorable outcome of our model program was instrumental to advise this technique as standard care methodology in Germany. ©2004 by Walter de Gruyter Berlin New York Medical equipment & techniques nationallicence Medical diagnosis nationallicence Diseases & disorders nationallicence inborn errors of metabolism nationallicence newborn screening nationallicence tandem mass spectrometry nationallicence angeborene Stoffwechselstörungen nationallicence Neugeborenen-Screening nationallicence Tandem-Massenspektrometrie nationallicence Roscher Adelbert A. Children's Hospital Research Center, University of Munich, Munich, Germany aut Olgemöller Bernhard Screening Laboratory Becker, Olgemöller & Partners, Munich, Germany aut LaboratoriumsMedizin Walter de Gruyter 28/6(2004-12-01), 521-524 0342-3026 28:6<521 2004 28 labm https://doi.org/10.1515/LabMed.2004.069 text/html Onlinezugriff via DOI 1 research article jats NATIONALLICENCE 856 40 https://doi.org/10.1515/LabMed.2004.069 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Roscher Adelbert A. Children's Hospital Research Center, University of Munich, Munich, Germany aut NATIONALLICENCE 700 1- Olgemöller Bernhard Screening Laboratory Becker, Olgemöller & Partners, Munich, Germany aut NATIONALLICENCE 773 0- LaboratoriumsMedizin Walter de Gruyter 28/6(2004-12-01), 521-524 0342-3026 28:6<521 2004 28 labm CC0 http://creativecommons.org/publicdomain/zero/1.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-gruyter